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From SNPedia

Magnitude 5
Summary Did you mix multiple people together?
Criteria Gs261/criteria
ImgURL link

This is most often seen when the user mixed multiple (male and female) people into a single report. That is not how promethease works.

However historically there were also data quality issues where some testing companies would report low confidence calls on the X and Y chromosomes. Ancestry.com is a notable example of this, but some full sequencing efforts are also affected. Your data shows evidence of both

  • gs145 heterozygosity on the X - evidence of being a female
  • gs144 genotypes on the Y - evidence of being a male.

If you were tested on a less common platform, this is probably evidence of some noisiness in the data given to promethease.

This genoset would also show for some rare cases of Klinefelter syndrome

info@promethease.com is interested in hearing from you if you have questions about this.